17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.

How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:528. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Other causes included HNF1B or 17q12 deletions (13%), minor autosomal dominant polycystic kidney disease genes (11%; GANAB, NEK8, IFT140 ), monoallelic PKHD1 (3%), and biallelic PKHD1 (8%), while syndromic ciliopathy genes accounted for 5%.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: A... openalex 2026-03-06 yesterday 1.00